Canonical Allele Identifier: CA16612700
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 407120
dbSNP Id: rs1064792934

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824378_127824409delinsCCACCAT , CM000671.2:g.127824378_127824409delinsCCACCAT GRCh38
NC_000009.11:g.130586657_130586688delinsCCACCAT , CM000671.1:g.130586657_130586688delinsCCACCAT GRCh37
NC_000009.10:g.129626478_129626509delinsCCACCAT NCBI36
NG_009551.1:g.35360_35391delinsATGGTGG , LRG_589:g.35360_35391delinsATGGTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.483_514delinsATGGTGG ENSP00000479015.1:p.Thr162TrpfsTer7
ENST00000373203.9:c.1029_1060delinsATGGTGG MANE Select ENSP00000362299.4:p.Thr344TrpfsTer7
ENST00000344849.4:c.1029_1060delinsATGGTGG ENSP00000341917.3:p.Thr344TrpfsTer7
ENST00000373203.8:c.1029_1060delinsATGGTGG ENSP00000362299.4:p.Thr344TrpfsTer7
ENST00000480266.5:c.483_514delinsATGGTGG ENSP00000479015.1:p.Thr162TrpfsTer7
NM_000118.3:c.1029_1060delinsATGGTGG , LRG_589t1:c.1029_1060delinsATGGTGG NP_000109.1:p.Thr344TrpfsTer7
NM_001114753.2:c.1029_1060delinsATGGTGG , LRG_589t2:c.1029_1060delinsATGGTGG NP_001108225.1:p.Thr344TrpfsTer7
NM_001278138.1:c.483_514delinsATGGTGG NP_001265067.1:p.Thr162TrpfsTer7
NM_001114753.3:c.1029_1060delinsATGGTGG MANE Select NP_001108225.1:p.Thr344TrpfsTer7
NM_001278138.2:c.483_514delinsATGGTGG NP_001265067.1:p.Thr162TrpfsTer7